Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

Neuromuscular Disorders

Volumn 20, Issue 1, 2010, Pages 49-52

  Jungbluth, Heinz ^a,b   Cullup, Tom ^c   Lillis, Suzanne ^c   Zhou, Haiyan ^d   Abbs, Stephen ^c   Sewry, Caroline ^d,e   Muntoni, Francesco ^d  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

Author keywords

Cataracts; Centronuclear myopathy (CNM); Dynamin 2 (DNM2) gene

Indexed keywords

DYNAMIN II;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CATARACT; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MUSCLE WEAKNESS; NERVE CONDUCTION; PRIORITY JOURNAL; RESPIRATORY FAILURE; VISUAL SYSTEM EXAMINATION;

ADOLESCENT; AMINO ACID SUBSTITUTION; CATARACT; CHILD; DISEASE PROGRESSION; DYNAMIN II; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MUSCLE, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 74149093585     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.10.005     Document Type: Article

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